ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828393198
Gene: RFXANK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538596
ClinVar RCV Id:
RCV000647953
RCV003945639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357164.1:p.Asp148Asn
CA9322769
NM_001370235.1:c.442G>A